Searching for better treatments for children with a rare metabolic disease | Children's Charity

Searching for better treatments for children with a rare metabolic disease

Published on 7 December 2015

Children with a rare metabolic disease called non-ketotic hyperglycinemia (NKH) may one day benefit from research by Professor Nicholas Greene of University College London’s Institute of Child Health. Children with this devastating condition normally become ill soon after birth. Sadly, some lose their lives while just babies, some others during childhood. Professor Greene is investigating the disease processes that cause children’s symptoms, assessing the benefits of existing treatments and searching for new therapies. Although his work is still in the laboratory stages, Professor Greene hopes to develop treatments that one day reduce children’s suffering and perhaps even save their lives.

Action Medical Research and Great Ormond Street Children's Charity are jointly funding this research.

How are children’s lives affected now?

“NKH is a disease that affects around one in every 60,000 babies,” says Professor Greene.1,2 “Most become seriously ill during the first few days of life. They become floppy, lethargic and need help with their breathing. They can also have seizures.”

“Babies who survive can go on to have severe problems during childhood, including epilepsy, and profound learning and physical disabilities,” continues Professor Greene. “For example, although babies might learn to sit up, most don’t learn to walk or speak more than a few words, and they need help to eat throughout their lives.”

Medicines can help, as can occupational and physical therapies, and support groups can provide families with much-needed information, advice and emotional support, which is particularly important with rare conditions like NKH.

There’s no cure though. While some children have milder forms of NKH that tend to start later, sadly, those with the most severe forms of the condition often die young. Better treatments are needed urgently.

How could this research help?

“We already know what causes NKH,” says Professor Greene. “Children with the condition have abnormalities – or mutations – in genes that code for proteins which act to break down a small molecule called glycine.”

In this project, the team is investigating how these genetic changes lead to symptoms. They aim to learn more about the disease processes that cause seizures and breathing problems by studying changes in brain function. They’re also investigating how well existing treatments work and developing some possible new approaches to treatment.”

“We’re exploring whether an approach called gene therapy is likely to benefit children with NKH,” adds Professor Greene. “Gene therapy would work by putting a normal copy of the gene that is not working into the child’s cells. This would address the genetic changes that are the root cause of all of the symptoms that children experience. At the moment, our work is in the laboratory stages, but we hope it will one day lead to better ways to treat NKH and improve children’s lives.”

References

1. Orphanet. Glycine encephalopathy. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=407 Website accessed 18 November 2015.

2. Gene Reviews [Internet] Glycine encephalopathy http://www.ncbi.nlm.nih.gov/books/NBK1357/ Website accessed 18 November 2015.

Project LeaderProfessor Nicholas DE Greene MA PhD
Project team
  • Professor Andrew J Copp DPhil MBBS FRCPath
  • Dr Simon N Waddington MSc PhD
LocationDevelopmental Biology and Cancer Programme, Institute of Child Health, University College London
Other locations
  • Maternal and Fetal Medicine, Institute for Women's Health, University College London
Duration2 years
Grant awarded21 July 2015
Start date1 January 2016
End date30 April 2018
Grant amount£177,915.00
Grant codeGN2403

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